Zobrazeno 1 - 10 of 19 pro vyhledávání: '"Dorra H'mida-Ben Brahim"'
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Akademický článek
A novel nonsense ATP2C1 mutation causes Hailey-Hailey disease in a Tunisian family
Autor: Marwa Chourabi, Dorra H’mida-Ben Brahim, Carine Bonnard, Amina Aounallah, Alvin Yu Ng, Sumanty Tohari, Byrappa Venkatesh, Ali Saad, Lobna Boussofara, Bruno Reversade, Mohamed Denguezli
Publikováno v: Nasza Dermatologia Online, Vol 9, Iss 2, Pp 110-113 (2018)
Background: Hailey-Hailey disease (HHD) is an autosomal dominant blistering skin disorder that manifests in the third to fourth decade of life. The ATP2C1 has been identified as the pathogenic gene of this disease since 2000. Materials and Methods
Externí odkaz: https://doaj.org/article/e362b8af2de845b5bf15d8ca8c5dca92
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2
Akademický článek
Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature
Autor: Hela Sassi, Yasmina Elaribi, Houweyda Jilani, Imen Rejeb, Syrine Hizem, Molka Sebai, Nadia Kasdallah, Habib Bouthour, Samia Hannachi, Jasmin Beygo, Ali Saad, Karin Buiting, Dorra H’mida Ben‐Brahim, Lamia BenJemaa
Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Abstract Background Beckwith–Wiedemann syndrome (BWS) is a rare overgrowth syndrome characterized by congenital malformations and predisposition to embryonic tumors. Loss of methylation of imprinting center 2 (IC2) is the most frequent alteration a
Externí odkaz: https://doaj.org/article/fc40ee2cb6c545c19d90a77e319e55ec
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3
Beckwith–Wiedemann syndrome : Clinical, histopathological and molecular study of two Tunisian patients and review of literature
Autor: Samia Hannachi, Nadia Kasdallah, Ali Saad, H. Bouthour, Lamia BenJemaa, Houweyda Jilani, Dorra H'mida Ben-Brahim, H. Sassi, Molka Sebai, Jasmin Beygo, Imen Rejeb, Syrine Hizem, Yasmina Elaribi, Karin Buiting
Publikováno v: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Background Beckwith–Wiedemann syndrome (BWS) is a rare overgrowth syndrome characterized by congenital malformations and predisposition to embryonic tumors. Loss of methylation of imprinting center 2 (IC2) is the most frequent alteration and rarely
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d169c88acc49bed58603bab7f8ef258b
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85114661901
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4
Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literature
Autor: Guiomar Perez de Nanclares, Nabiha Mahdhaoui, Aida Ghith, Ali Saad, Javier Errea-Dorronsoro, Arrate Pereda, Ameni Touati, Sonia Nouri, Yosra Halleb, Dorra H'mida-Ben Brahim
Publikováno v: Acta Diabetologica. 56:301-307
6q24-related transient neonatal diabetes mellitus (6q24-TNDM) is a rare imprinting disorder characterized by uncontrolled hyperglycemia during the first 6 months of life. The molecular etiology of 6q24-TNDM is attributable to overexpression of the pa
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08ad791552a4af4ae18bc25732ef6c36
https://doi.org/10.1007/s00592-018-1239-3
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6
Functional diversity and co-operativity between subclonal populations of paediatric glioblastoma and diffuse intrinsic pontine glioma cells
Autor: Andrew J. Martin, Elizabeth Y. Qin, Ofelia Cruz, Leslie R. Bridges, Jaume Mora, Andrew S. Moore, Natacha Entz-Werle, Henry Mandeville, Carmen de Torres, Kathryn R. Taylor, Sucheta Vaidya, Christopher J. Lord, Angel M. Carcaboso, Lynley V. Marshall, Valeria Molinari, Ketty Kessler, Diana Carvalho, Mariona Suñol, Dorra H'mida-Ben Brahim, Anna Burford, Wendy J. Ingram, Tim Forshew, Mara Vinci, Michelle Monje, Alice Gutteridge, Christopher Chandler, Ho Keung Ng, Saoussen Trabelsi, Matthew Clarke, Sergey V. Popov, Helen Pemberton, Chris Jones, Safa Al-Sarraj, Stergios Zacharoulis, Alan Mackay
Publikováno v: Nature medicine
NATURE MEDICINE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
The failure to develop effective therapies for paediatric glioblastoma (pGBM) and diffuse intrinsic pontine glioma (DIPG) is in part due to their intrinsic heterogeneity. We aimed to quantitatively map assess the extent to which this was present in t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c676260dd12a1b533e825e93c925fb5e
http://europepmc.org/articles/PMC6086334
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7
A novel nonsense ATP2C1 mutation causes Hailey-Hailey disease in a Tunisian family
Autor: Lobna Boussofara, Carine Bonnard, Byrappa Venkatesh, Ali Saad, Amina Aounallah, Marwa Chourabi, Dorra H'mida-Ben Brahim, Sumanty Tohari, Alvin Yu Ng, Bruno Reversade, Mohamed Denguezli
Publikováno v: Nasza Dermatologia Online, Vol 9, Iss 2, Pp 110-113 (2018)
Background: Hailey-Hailey disease (HHD) is an autosomal dominant blistering skin disorder that manifests in the third to fourth decade of life. The ATP2C1 has been identified as the pathogenic gene of this disease since 2000. Materials and Methods: W
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c8a81f5c02237912bcc359531904a06
http://www.odermatol.com/issue-in-html/2018-2-1-hailey-hailey/
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9
ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis
Autor: Lobna Boussofara, Carine Bonnard, Mei Shan Liew, Kim S. Robinson, Bruno Reversade, Youcef Ben Khalifa, Jianjun Liu, Ons Mamaï, Mohamed Denguezli, Ali Saad, Simon Denil, Liang Dai, Badreddine Sriha, Pui Mun Wong, John E.A. Common, Shawn Lim, Marwa Chourabi, Dorra H'mida-Ben Brahim, Jia Nee Foo, Mathieu Bollen
Publikováno v: Journal of investigative dermatology, 138(2), 291-300. Nature Publishing Group
Cole disease is a genodermatosis of pigmentation following a strict dominant mode of inheritance. In this study, we investigated eight patients affected with an overlapping genodermatosis after recessive inheritance. The patients presented with hypo-
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f06e2b44fa259667c1a70d6d6e9b962a
https://pure.amc.nl/en/publications/enpp1-mutation-causes-recessive-cole-disease-by-altering-melanogenesis(97a5160c-6c5b-451e-8f6b-9d4864e0a75a).html
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10
Genetic study of non-syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member 10A genes: a case-series
Autor: Dorra H'mida-Ben Brahim, Marwa Haddaji Mastouri, Aicha Zaghabani, Paul Coucke, Ali Saad, Amina Ben Salem, Frej Jammali, Peter De Coster, Nabiha Raouahi
Publikováno v: European journal of oral sciences. 126(1)
Non-syndromic tooth agenesis (NSTA) is the most common developmental anomaly in humans. Several studies have been conducted on dental agenesis and numerous genes have been identified. However, the pathogenic mechanisms responsible for NSTA are not cl
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d7e3d4a0b340d13d0dd131037e3bcf6
https://pubmed.ncbi.nlm.nih.gov/29114927
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